Mutagenetix > Incidental Mutations

Incidental Mutation 'R3551:Thrb'

473008

Institutional Source

Beutler Lab

Gene Symbol

Thrb

Ensembl Gene

ENSMUSG00000021779

Gene Name

thyroid hormone receptor beta

Synonyms

c-erbAbeta, T3R[b], Nr1a2, T3Rbeta, Thrb1, TR beta, Thrb2

MMRRC Submission

040668-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.502) question?

Stock #

R3551 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17660261-18038090 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17963214 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 59 (I59N)

Ref Sequence

ENSEMBL: ENSMUSP00000153055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022303] [ENSMUST00000091471] [ENSMUST00000224470] [ENSMUST00000224597] [ENSMUST00000224934]

Predicted Effect

probably benign
Transcript: ENSMUST00000022303
AA Change: I59N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022303
Gene: ENSMUSG00000021779
AA Change: I59N

Domain	Start	End	E-Value	Type
ZnF_C4	104	177	2.88e-36	SMART
low complexity region	188	203	N/A	INTRINSIC
HOLI	274	432	9.29e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000091471
AA Change: I59N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000089053
Gene: ENSMUSG00000021779
AA Change: I59N

Domain	Start	End	E-Value	Type
ZnF_C4	104	177	2.88e-36	SMART
low complexity region	188	203	N/A	INTRINSIC
HOLI	274	432	9.29e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224512

Predicted Effect

probably damaging
Transcript: ENSMUST00000224597
AA Change: I59N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000224934
AA Change: I28N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225876

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit elevated T3, T4, and TSH serum levels, abnormal ear morphology, deafness, and abnormal thyroid morphology. Mice homozygous for allele with point mutations exhibit disruption in thyroid hormone sensitivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Adam24	G	C	8: 40,679,593	W33C	probably benign	Het
Adgrl2	A	T	3: 148,858,963	V327E	probably damaging	Het
Aqp7	T	A	4: 41,045,329	N17I	probably benign	Het
Bicra	T	A	7: 15,979,733	Q848L	probably benign	Het
C4b	T	C	17: 34,741,872	E240G	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Clca3a2	T	A	3: 144,803,081	N50I	probably damaging	Het
Dcaf7	A	G	11: 106,054,796	T324A	probably benign	Het
Dnah12	G	A	14: 26,770,972	R1230H	probably benign	Het
Dsg4	G	A	18: 20,451,756	V176M	probably damaging	Het
Ect2l	A	G	10: 18,163,393	I339T	probably damaging	Het
Edc4	A	T	8: 105,885,494	I138F	probably damaging	Het
Ercc6l2	T	A	13: 63,844,595	V401E	probably damaging	Het
Gm3269	T	A	14: 4,845,893	V260D	possibly damaging	Het
Gm4076	C	T	13: 85,127,150		noncoding transcript	Het
Gm4922	A	T	10: 18,784,496	N159K	probably benign	Het
Gm5134	G	T	10: 76,000,447	A421S	probably benign	Het
Gm5724	T	C	6: 141,708,596	K647E	probably benign	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Ipo4	A	G	14: 55,633,103	V288A	probably benign	Het
Kng2	A	G	16: 23,011,995		probably null	Het
Lrfn1	T	C	7: 28,460,054	L466P	possibly damaging	Het
Magi1	T	A	6: 93,699,629	K916N	probably damaging	Het
Mms19	T	C	19: 41,949,798	T720A	probably benign	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Npas2	A	T	1: 39,287,562	M43L	probably benign	Het
Nup43	A	G	10: 7,675,014	D216G	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Pear1	A	G	3: 87,758,132	F145L	probably benign	Het
Pgap1	A	G	1: 54,530,143	S355P	possibly damaging	Het
Prr14l	A	T	5: 32,828,619		probably null	Het
Ptpn12	T	C	5: 20,989,049	K742E	possibly damaging	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Sema4c	G	C	1: 36,553,723	T138S	probably benign	Het
Slc4a2	C	T	5: 24,430,101	T168M	probably benign	Het
Spice1	G	T	16: 44,357,869	S85I	probably damaging	Het
Trav7-1	A	G	14: 52,655,299	D103G	probably damaging	Het
Ubap2l	G	T	3: 90,015,451	T766N	unknown	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp704	A	G	3: 9,474,525	V255A	probably damaging	Het
Zfp759	T	C	13: 67,138,967	V194A	probably benign	Het

Other mutations in Thrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Thrb	APN	14	18011056	splice site	probably benign
IGL02488:Thrb	APN	14	18033455	missense	probably damaging	0.98
IGL02598:Thrb	APN	14	18008606	missense	possibly damaging	0.95
IGL02707:Thrb	APN	14	18026721	missense	probably benign	0.42
harry	UTSW	14	18011145	nonsense	probably null
R0479:Thrb	UTSW	14	18033643	missense	probably damaging	0.99
R0988:Thrb	UTSW	14	17981837	intron	probably benign
R1257:Thrb	UTSW	14	18008642	missense	probably damaging	1.00
R1522:Thrb	UTSW	14	18002597	missense	probably damaging	1.00
R1927:Thrb	UTSW	14	18008674	missense	probably damaging	1.00
R2100:Thrb	UTSW	14	18030393	missense	possibly damaging	0.73
R2134:Thrb	UTSW	14	18033487	missense	probably benign	0.22
R3888:Thrb	UTSW	14	18033551	missense	probably damaging	1.00
R3975:Thrb	UTSW	14	18033456	missense	probably damaging	1.00
R4294:Thrb	UTSW	14	18011145	nonsense	probably null
R4371:Thrb	UTSW	14	18030275	missense	probably damaging	1.00
R4454:Thrb	UTSW	14	18011187	missense	probably damaging	0.97
R4457:Thrb	UTSW	14	18011187	missense	probably damaging	0.97
R4486:Thrb	UTSW	14	17925640	start codon destroyed	probably null	0.72
R4961:Thrb	UTSW	14	18011076	missense	probably benign	0.39
R5184:Thrb	UTSW	14	18011181	nonsense	probably null
R5609:Thrb	UTSW	14	18033526	missense	probably benign	0.22
R6023:Thrb	UTSW	14	18011209	missense	probably damaging	0.98
R6891:Thrb	UTSW	14	17981899	missense	probably benign
R7288:Thrb	UTSW	14	18030186	missense	probably damaging	1.00
R7294:Thrb	UTSW	14	17826963	start gained	probably benign
R7780:Thrb	UTSW	14	18008608	missense	possibly damaging	0.73
R8098:Thrb	UTSW	14	18008645	missense	probably damaging	1.00
R8739:Thrb	UTSW	14	17963082	missense	probably benign	0.04
R8788:Thrb	UTSW	14	18002558	missense	probably damaging	1.00
Z1177:Thrb	UTSW	14	18033433	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14